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Zeitschrift

Journal of Inherited Metabolic Disease

Journal of Inherited Metabolic Disease 6/2018

Ausgabe 6/2018

Inhaltsverzeichnis ( 46 Artikel )

02.07.2018 | Editorial | Ausgabe 6/2018

View from inside

Jyoti Halai

24.09.2018 | Editorial | Ausgabe 6/2018

View from inside

Living with mitochondrial disease
Faye Wylie

28.11.2018 | Editorial | Ausgabe 6/2018

Synaptic metabolism and brain circuitries in inborn errors of metabolism

Àngels García-Cazorla, Rafael Artuch, Àlex Bayès

23.11.2018 | Editorial | Ausgabe 6/2018 Open Access

Next-generation glycogen storage diseases

Terry G. J. Derks, Maaike H. Oosterveer, Carolina F. De Souza

25.09.2018 | Letter to the Editors | Ausgabe 6/2018

Letter to the Editors: Concerning “Long-term safety and efficacy of AAV gene therapy in the canine model of glycogen storage disease type Ia” by Lee et al.

Elizabeth D. Brooks, Priya S. Kishnani, Dwight D. Koeberl

27.09.2018 | LETTER TO THE EDITOR | Ausgabe 6/2018

Response letter

Youngmok Lee, Janice Y. Chou, David A. Weinstein

25.05.2018 | Glycogen Storage Disease | Ausgabe 6/2018

Role of continuous glucose monitoring in the management of glycogen storage disorders

Mrudu Herbert, Surekha Pendyal, Mugdha Rairikar, Carine Halaby, Robert W. Benjamin, Priya S. Kishnani

29.03.2018 | Glycogen Storage Disease | Ausgabe 6/2018 Open Access

A preliminary study of telemedicine for patients with hepatic glycogen storage disease and their healthcare providers: from bedside to home site monitoring

Irene J. Hoogeveen, Fabian Peeks, Foekje de Boer, Charlotte M. A. Lubout, Tom J. de Koning, Sebastiaan te Boekhorst, Robert-Jan Zandvoort, Rob Burghard, Francjan J. van Spronsen, Terry G. J. Derks

28.08.2018 | Glycogen Storage Disease | Ausgabe 6/2018

Late-onset Pompe disease in France: molecular features and epidemiology from a nationwide study

Claudio Semplicini, Pascaline Letard, Marie De Antonio, Nadjib Taouagh, Barbara Perniconi, Françoise Bouhour, Andoni Echaniz-Laguna, David Orlikowski, Sabrina Sacconi, Emmanuelle Salort-Campana, Guilhem Solé, Fabien Zagnoli, Dalil Hamroun, Roseline Froissart, Catherine Caillaud, Pascal Laforêt, French Pompe Study Group

16.04.2018 | Glycogen Storage Disease | Ausgabe 6/2018

Dental and periodontal manifestations of glycogen storage diseases: a case series of 60 patients

Martin Biosse Duplan, Aurélie Hubert, Elvire Le Norcy, Alice Louzoun, Ariane Perry, Catherine Chaussain, Philippe Labrune

04.06.2018 | Glycogen Storage Disease | Ausgabe 6/2018

Polycystic kidney features of the renal pathology in glycogen storage disease type I: possible evolution to renal neoplasia

Monika Gjorgjieva, Laure Monteillet, Julien Calderaro, Gilles Mithieux, Fabienne Rajas

24.07.2018 | Glycogen Storage Disease | Ausgabe 6/2018

Long-term complications of glycogen storage disease type Ia in the canine model treated with gene replacement therapy

Elizabeth D. Brooks, Dustin J. Landau, Jeffrey I. Everitt, Talmage T. Brown, Kylie M. Grady, Lauren Waskowicz, Cameron R. Bass, John D’Angelo, Yohannes G. Asfaw, Kyha Williams, Priya S. Kishnani, Dwight D. Koeberl

25.05.2018 | Glycogen Storage Disease | Ausgabe 6/2018

Long-term safety and efficacy of AAV gene therapy in the canine model of glycogen storage disease type Ia

Young Mok Lee, Thomas J. Conlon, Andrew Specht, Kirsten E. Coleman, Laurie M. Brown, Ana M. Estrella, Monika Dambska, Kathryn R. Dahlberg, David A. Weinstein

12.02.2018 | Original Article | Ausgabe 6/2018

Insulin-resistance in glycogen storage disease type Ia: linking carbohydrates and mitochondria?

Alessandro Rossi, Margherita Ruoppolo, Pietro Formisano, Guglielmo Villani, Lucia Albano, Giovanna Gallo, Daniela Crisci, Augusta Moccia, Giancarlo Parenti, Pietro Strisciuglio, Daniela Melis

08.05.2018 | Glycogen Storage Disease | Ausgabe 6/2018

Sirtuin signaling controls mitochondrial function in glycogen storage disease type Ia

Jun-Ho Cho, Goo-Young Kim, Brian C. Mansfield, Janice Y. Chou

16.04.2018 | GLYCOGEN STORAGE DISEASE | Ausgabe 6/2018

Molecular biology and gene therapy for glycogen storage disease type Ib

Janice Y. Chou, Jun-Ho Cho, Goo-Young Kim, Brian C. Mansfield

02.07.2018 | Glycogen Storage Disease | Ausgabe 6/2018

Development and characterization of an inducible mouse model for glycogen storage disease type Ib

Federica Raggi, Anna Livia Pissavino, Roberta Resaz, Daniela Segalerba, Andrea Puglisi, Cristina Vanni, Francesca Antonini, Genny Del Zotto, Alessandra Gamberucci, Paola Marcolongo, Maria Carla Bosco, Federica Grillo, Luca Mastracci, Alessandra Eva

20.06.2018 | Glycogen Storage Disease | Ausgabe 6/2018

Manifesting heterozygotes in McArdle disease: a myth or a reality—role of statins

Judit Núñez-Manchón, Alfonsina Ballester-Lopez, Emma Koehorst, Ian Linares-Pardo, Daniëlle Coenen, Ignacio Ara, Carlos Rodriguez-Lopez, Alba Ramos-Fransi, Alicia Martínez-Piñeiro, Giuseppe Lucente, Miriam Almendrote, Jaume Coll-Cantí, Guillem Pintos-Morell, Alejandro Santos-Lozano, Joaquin Arenas, Miguel Angel Martín, Mauricio de Castro, Alejandro Lucia, Alfredo Santalla, Gisela Nogales-Gadea

28.03.2018 | Glycogen Storage Disease | Ausgabe 6/2018

Non-osteogenic muscle hypertrophy in children with McArdle disease

I. Rodríguez-Gómez, A. Santalla, J. Díez-Bermejo, D. Munguía-Izquierdo, L. M. Alegre, G. Nogales-Gadea, J. Arenas, M. A. Martín, A. Lucía, I. Ara

16.07.2018 | Review | Ausgabe 6/2018 Open Access

Cellular neurometabolism: a tentative to connect cell biology and metabolism in neurology

Àngels García-Cazorla, Jean-Marie Saudubray

04.06.2018 | Review | Ausgabe 6/2018

Metabolism of amino acid neurotransmitters: the synaptic disorder underlying inherited metabolic diseases

Stefan Kölker

16.07.2018 | Review | Ausgabe 6/2018

Synaptic metabolism: a new approach to inborn errors of neurotransmission

Alba Tristán-Noguero, Àngels García-Cazorla

13.06.2018 | Review | Ausgabe 6/2018 Open Access

Postsynaptic movement disorders: clinical phenotypes, genotypes, and disease mechanisms

Lucia Abela, Manju A. Kurian

21.08.2018 | Review | Ausgabe 6/2018 Open Access

Setting the stage for a role of the postsynaptic proteome in inherited neurometabolic disorders

Àlex Bayés

06.07.2018 | Review | Ausgabe 6/2018

Induced pluripotent stem cells (iPSCs) as model to study inherited defects of neurotransmission in inborn errors of metabolism

Sabine Jung-Klawitter, Thomas Opladen

04.06.2018 | Review | Ausgabe 6/2018

Lipids and synaptic functions

Fanny Mochel

13.07.2018 | Review | Ausgabe 6/2018 Open Access

Transcranial electrical stimulation (tES) mechanisms and its effects on cortical excitability and connectivity

Thomas Reed, Roi Cohen Kadosh

18.07.2018 | Original Article | Ausgabe 6/2018

Presynaptic disorders: a clinical and pathophysiological approach focused on the synaptic vesicle

Elisenda Cortès-Saladelafont, Noa Lipstein, Àngels García-Cazorla

04.07.2018 | Original Article | Ausgabe 6/2018

Cerebrospinal fluid monoamines, pterins, and folate in patients with mitochondrial diseases: systematic review and hospital experience

Marta Batllori, Marta Molero-Luis, Aida Ormazabal, Raquel Montero, Cristina Sierra, Antonia Ribes, Julio Montoya, Eduardo Ruiz-Pesini, Mar O’Callaghan, Leticia Pias, Andrés Nascimento, Francesc. Palau, Judith Armstrong, Delia Yubero, Juan D. Ortigoza-Escobar, Angels García-Cazorla, Rafael Artuch

29.08.2018 | Original Article | Ausgabe 6/2018

Molecular genetics of a cohort of 635 cases of phenylketonuria in a consanguineous population

Tina Shirzadeh, Amir Hossein Saeidian, Hamideh Bagherian, Shadab Salehpour, Aria Setoodeh, Mohammad Reza Alaei, Leila Youssefian, Ashraf Samavat, Andrew Touati, Mohammad-Sadegh Fallah, Hassan Vahidnezhad, Morteza Karimipoor, Sarah Azadmehr, Marzieh Raeisi, Ameneh Bandehi Sarhadi, Fatemeh Zafarghandi Motlagh, Mojdeh Jamali, Zahra Zeinali, Maryam Abiri, Sirous Zeinali, Additional individual contributors

07.09.2018 | Original Article | Ausgabe 6/2018

The diagnostic challenge in very-long chain acyl-CoA dehydrogenase deficiency (VLCADD)

Julia Hesse, Carina Braun, Sidney Behringer, Uta Matysiak, Ute Spiekerkoetter, Sara Tucci

29.08.2018 | Original Article | Ausgabe 6/2018 Open Access

Fibroblast growth factor 21 as a biomarker for long-term complications in organic acidemias

F. Molema, E. H. Jacobs, W. Onkenhout, G. C. Schoonderwoerd, J. G. Langendonk, Monique Williams

28.03.2018 | Original Article | Ausgabe 6/2018

Newborn screening for Pompe disease: impact on families

B. Pruniski, E. Lisi, N. Ali

19.03.2018 | Original Article | Ausgabe 6/2018 Open Access

Long-term follow-up of 17 patients with childhood Pompe disease treated with enzyme replacement therapy

Jan C. van der Meijden, Michelle E. Kruijshaar, Laurike Harlaar, Dimitris Rizopoulos, Nadine A. M. E. van der Beek, Ans T. van der Ploeg

30.05.2018 | Original Article | Ausgabe 6/2018 Open Access

Efficacy and safety of Velmanase alfa in the treatment of patients with alpha-mannosidosis: results from the core and extension phase analysis of a phase III multicentre, double-blind, randomised, placebo-controlled trial

Line Borgwardt, Nathalie Guffon, Yasmina Amraoui, Christine I. Dali, Linda De Meirleir, Mercedes Gil-Campos, Bénédicte Heron, Silvia Geraci, Diego Ardigò, Federica Cattaneo, Jens Fogh, J. M. Hannerieke Van den Hout, Michael Beck, Simon A. Jones, Anna Tylki-Szymanska, Ulla Haugsted, Allan M. Lund

03.05.2018 | Original Article | Ausgabe 6/2018 Open Access

Comprehensive long-term efficacy and safety of recombinant human alpha-mannosidase (velmanase alfa) treatment in patients with alpha-mannosidosis

Allan M. Lund, Line Borgwardt, Federica Cattaneo, Diego Ardigò, Silvia Geraci, Mercedes Gil-Campos, Linda De Meirleir, Cécile Laroche, Philippe Dolhem, Duncan Cole, Anna Tylki-Szymanska, Monica Lopez-Rodriguez, Encarna Guillén-Navarro, Christine I. Dali, Bénédicte Héron, Jens Fogh, Nicole Muschol, Dawn Phillips, J. M. Hannerieke Van den Hout, Simon A. Jones, Yasmina Amraoui, Paul Harmatz, Nathalie Guffon

05.07.2018 | Original Article | Ausgabe 6/2018

The efficacy of intracerebroventricular idursulfase-beta enzyme replacement therapy in mucopolysaccharidosis II murine model: heparan sulfate in cerebrospinal fluid as a clinical biomarker of neuropathology

Young Bae Sohn, Ah-Ra Ko, Mi-ran Seong, Soyeon Lee, Mi Ra Kim, Sung Yoon Cho, Jung-Sun Kim, Makoto Sakaguchi, Takahiro Nakazawa, Motomichi Kosuga, Joo Hyun Seo, Torayuki Okuyama, Dong-Kyu Jin

06.08.2018 | Original Article | Ausgabe 6/2018 Open Access

Craniosynostosis affects the majority of mucopolysaccharidosis patients and can contribute to increased intracranial pressure

Esmee Oussoren, Irene M. J. Mathijssen, Margreet Wagenmakers, Rob M. Verdijk, Hansje H. Bredero-Boelhouwer, Marie-Lise C. van Veelen-Vincent, Jan C. van der Meijden, Johanna M. P. van den Hout, George J. G. Ruijter, Ans T. van der Ploeg, Mirjam Langeveld

31.07.2018 | Original Article | Ausgabe 6/2018 Open Access

Improvement in bone marrow infiltration in patients with type I Gaucher disease treated with taliglucerase alfa

Ari Zimran, Tama Dinur, Shoshana Revel-Vilk, Eric M. Akkerman, Laura van Dussen, Carla E. M. Hollak, Hannah Maayan, Gheona Altarescu, Raul Chertkoff, Mario Maas

19.07.2018 | Original Article | Ausgabe 6/2018 Open Access

Outcome measures for children with mitochondrial disease: consensus recommendations for future studies from a Delphi-based international workshop

Saskia Koene, Lara van Bon, Enrico Bertini, Cecilia Jimenez-Moreno, Lianne van der Giessen, Imelda de Groot, Robert McFarland, Sumit Parikh, Shamima Rahman, Michelle Wood, Jiri Zeman, Anjo Janssen, Jan Smeitink

30.08.2018 | Original Article | Ausgabe 6/2018 Open Access

Spectrum of movement disorders and neurotransmitter abnormalities in paediatric POLG disease

A. Papandreou, S. Rahman, C. Fratter, J. Ng, E. Meyer, L. J. Carr, M. Champion, A. Clarke, P. Gissen, C. Hemingway, N. Hussain, S. Jayawant, M. D. King, B. J. Lynch, L. Mewasingh, J. Patel, P. Prabhakar, V. Neergheen, S. Pope, S. J. R. Heales, J. Poulton, Manju A. Kurian

21.08.2018 | Original Article | Ausgabe 6/2018

Disulfiram enhanced delivery of orally administered copper into the central nervous system in Menkes disease mouse model

Takao Hoshina, Satoshi Nozaki, Takashi Hamazaki, Satoshi Kudo, Yuka Nakatani, Hiroko Kodama, Haruo Shintaku, Yasuyoshi Watanabe

02.05.2018 | Images in Metabolic Medicine | Ausgabe 6/2018

Severe ichthyosis in MPDU1-CDG

Christian Thiel, Saskia Wortmann, Korbinian Riedhammer, Bader Alhaddad, Ertan Mayatepek, Holger Prokisch, Felix Distelmaier

20.07.2018 | Correction | Ausgabe 6/2018

Correction to: Manifesting heterozygotes in McArdle disease: a myth or a reality-role of statins

Judit Núñez-Manchón, Alfonsina Ballester-Lopez, Emma Koehorst, Ian Linares-Pardo, Daniëlle Coenen, Ignacio Ara, Carlos Rodriguez-Lopez, Alba Ramos-Fransi, Alicia Martínez-Piñeiro, Giuseppe Lucente, Miriam Almendrote, Jaume Coll-Cantí, Guillem Pintos-Morell, Alejandro Santos-Lozano, Joaquin Arenas, Miguel Angel Martín, Mauricio de Castro, Alejandro Lucia, Alfredo Santalla, Gisela Nogales-Gadea

27.07.2018 | Correction | Ausgabe 6/2018

Correction to: Medical and financial burden of acute intermittent porphyria

Rochus A. Neeleman, Margreet A. E. M. Wagenmakers, Rita H. Koole-Lesuis, G. Sophie Mijnhout, J. H. Paul Wilson, Edith C. H. Friesema, Janneke G. Langendonk

19.11.2018 | Correction | Ausgabe 6/2018

Correction to: Spectrum of movement disorders and neurotransmitter abnormalities in paediatric POLG disease

A. Papandreou, S. Rahman, C. Fratter, J. Ng, E. Meyer, L. J. Carr, M. Champion, A. Clarke, P. Gissen, C. Hemingway, N. Hussain, S. Jayawant, M. D. King, B. J. Lynch, L. Mewasingh, J. Patel, P. Prabhakar, V. Neergheen, S. Pope, S. J. R. Heales, J. Poulton, Manju A. Kurian

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